A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing.

Here we report a heterozygous missense variant in the ACTB gene, NM_001101.5:c.209C>T (p.

Efficient workflow and clinical validation of in-house 3D-printed vaginal cylinders for high-dose-rate brachytherapy for gynecologic malignancies.

Purpose: This study developed an efficient methodology for in-house 3D-printed vaginal cylinders for gynecologic tumor treatment by evaluating their radiation attenuation, geometric accuracy, and efficacy. Ultimately, we aim to establish a simple, cost-effective approach that facilitates broad clinical adoption.

Methods: Patient-specific vaginal cylinders were designed based on anatomical contours from the treatment planning system (TPS) using CAD software.

Cross-cultural adaptation and validation of the Japanese translation of the Fugl-Meyer Assessment for upper and lower extremity sensorimotor function after stroke.

Objective: To develop an official translation of the original Fugl-Meyer Assessment of upper and lower extremity sensorimotor function into Japanese by following a standardized cross-cultural adaptation process to ensure conceptual, linguistic, and semantic validity.

Design: Cross-cultural translation/validation.

Subjects/patients: Seven Japanese clinical experts and an external expert developed the translation.

Temporal and geographical trends in anticoagulant therapy and catheter ablation for atrial fibrillation in Japan, 2014-2022.

Background: In the past decade, treatment of atrial fibrillation (AF) has dramatically changed. Geographical variations and associated factors influencing implementation of anticoagulant therapy and catheter ablation for AF have not been completely elucidated. This study aimed to investigate the temporal and geographical trends in AF treatment and factors associated with the changes in AF treatment in Japan.

Association Between Meteorological Conditions and Acute Myocardial Infarction (AMI) Incidence: A Seasonal Analysis Using the Oita AMI Registry.

Background Weather is recognized as an environmental risk factor for acute myocardial infarction (AMI). This study explores the meteorological factors linked to a higher incidence of AMI. Methods and results The study involved 403 patients from the Oita AMI Registry who were admitted to 20 medical facilities with an AMI diagnosis between April 2012 and September 2013.

Association of the expression of 5-FU biomarkers with aging and prognosis in elderly patients with lung cancer treated with S-1 adjuvant chemotherapy: Follow-up results of the Setouchi Lung Cancer Group Study 1201.

Managing elderly patients presents several challenges because of age-related declines; however, age should not be the sole determinant for adjuvant treatment decisions in patients with non-small cell lung cancer (NSCLC). Moreover, age may affect the expression of 5-fluorouracil (5-FU) biomarkers. The present study assessed: i) The effect of age on the expression levels of 5-FU biomarkers by analyzing a public database; and ii) the ability of these biomarkers to predict clinical outcomes in elderly patients with NSCLC who underwent complete resection in the Setouchi Lung Cancer Group Study 1201 (SCLG1201) followed by S-1 adjuvant chemotherapy.

Multiple extra-axial calcified lesions and tortuous vessels in a patient with meningioangiomatosis and executive dysfunction.

Meningioangiomatosis (MA) is a rare benign hamartomatous lesion characterized by leptomeningeal and cortical vascular proliferation, and the predominant imaging feature is cerebral calcification. Although the radiological findings of this entity are well known, angiographic characteristics are incompletely understood. This report describes a case of a 54-year-old woman with sporadic MA and lifelong executive dysfunction with novel phase-specific angiographic features.

Comparison of Exoscopic and Microscopic Superficial Temporal Artery to Middle Cerebral Artery Bypass.

Purpose: Exoscopes have been used as a reliable surgical tool in the neurosurgical field. They could improve surgical field visibility with 4K three-dimensional (4K-3D) monitors and provide alleviation for the physical strain by allowing surgeons to maintain a neutral posture. In this study, we report our initial experience with exoscopic superficial temporal artery (STA)-middle cerebral artery (MCA) bypass compared to the conventional microscope at our institution.

Novel Role of Human Epicardial Adipocyte-Derived SPARCL1 in Postoperative Atrial Fibrillation Following Cardiovascular Surgery.

Background: Postoperative atrial fibrillation (POAF) is associated with short- and long-term morbidity and mortality. However, the ability of the epicardial adipocyte to regulate POAF remains poorly understood.

Objectives: The authors investigated the possible role of human epicardial adipocyte-derived adipokines in the regulation of the myocardial redox state and POAF.

Image Quality and Vessel Rendering Ability of Dynamic Range Compression-Processed Images of Peripheral Vessels in Digital Subtraction Angiography.

Background: In emergency interventional radiology (IR), patient motion and poor breath-holding often result in misregistration during digital subtraction angiography (DSA). As a countermeasure, digital angiography (DA) without subtraction processing is used for observation; however, evaluation is limited to areas overlapping with low X-ray transmissivity structures, such as bone. Dynamic trace (DT) is capable of real-time background compression processing of peripheral blood vessels in DA images and ensures visibility of blood vessels in such areas, without being affected by body motion.

High dynamic range capillary electrophoresis method for sensitive detection of low-frequency driver mutations.

Cancer genomics aims to personalize treatments by identifying genetic abnormalities in cancer cells. However, current analytical techniques face limitations in simplicity and cost-effectiveness. To address these issues, we developed an enhanced capillary gel electrophoresis (CE) sequencer using a fluorescence-acquisition technique called "HiDy" (High Dynamic range) (HiDy-CE).

Machine-Learning Prediction of Bleeding After Endoscopic Submucosal Dissection for Early Gastric Cancer: A Multicenter Study.

Background: Endoscopic submucosal dissection (ESD) is a minimally invasive treatment for early gastric cancer (GC); however, post-ESD bleeding remains a serious and unpredictable complication. This study aimed to develop machine-learning (ML) models to predict post-ESD bleeding and identify associated risk factors, ensuring accurate and interpretable predictions.

Methods: A retrospective, multicenter clinical database was constructed for patients who underwent ESD for early GC.

The heterozygous single-nucleotide polymorphism rs362691 increases the prefrontal cortical thickness and modulates systemizing-related autistic tendencies in typically developing children and adolescents.

Reelin, a glycoprotein, plays an essential role in the development and maturation of neural circuits in the cerebral cortex during embryonic and postnatal stages. Animal and human studies suggest that insufficient reelin signaling due to RELN mutations may alter the functional properties of the prefrontal cortex and contribute to cortical dysplasia in the frontal and temporal lobes. A heterozygous missense mutation in RELN, rs362691 (p.

Seven-Day Patch ECG Monitoring During National Insurance Health Checkup Efficiently Detected Silent Atrial Fibrillation in Individuals Aged 75 Years and Older.

Background: It is unclear to what extent silent atrial fibrillation (AF) is present in subjects previously undiagnosed with AF. The recently popular 7-day patch electrocardiography (ECG) monitoring may help answer this question.

Methods: In the Kitsuki and Usuki cities in Oita Prefecture, Japan, a study was conducted among subjects who underwent 7-day patch ECG monitoring (Heartnote) for silent AF screening during the national insurance health checkup between June and November 2023.

Lack of association between chronological age and fisher group and poor outcomes in older patients with severe-grade aneurysmal subarachnoid hemorrhage: a nationwide registry study in Japan.

Older age and Fisher group scores predict poor outcomes in patients with aneurysmal subarachnoid hemorrhage (aSAH). However, among aging societies, treatment indications and decisions in older patients with severe-grade aSAH (World Federation of Neurosurgical Societies [WFNS] grade IV or V) remain poorly understood. Therefore, we aimed to identify the risk factors associated with poor outcomes in non-older and older patients with severe-grade aSAH.

Sequential Cranial and Overlooked Cervical Spine Injuries Due to Head Trauma: A Billiard-Like Mechanism.

A 55-year-old male construction worker presented with multiple fractures after falling downstairs and striking his forehead on a concrete wall, an incident preceded by consuming approximately 50 g of alcohol. Initial evaluation revealed a contaminated 7 cm forehead laceration and a depressed frontal bone fracture, with no neurological deficits or intracranial bleeding on computed tomography (CT), leading to discharge with follow-up instructions despite mild intoxication. The next day, neck pain prompted further imaging, uncovering a complex injury pattern: frontal bone fracture, occipital base fracture, C1 anterior arch fracture, and C4 vertebral body and spinous process fractures, with magnetic resonance imaging (MRI) excluding intervertebral disc injury.

Pulmonary artery-targeted low-dose metformin-loaded nanocapsules safely improve pulmonary arterial hypertension in rats.

Introduction: Pulmonary arterial hypertension (PAH) remains a challenge to tackle despite various available medications. Metformin, although promising, has major adverse effects; the use of an appropriate drug delivery method may improve its efficacy and safety. The aim of this study was to develop a novel treatment for PAH using metformin.

Fulminant simultaneous multiple dissections of the cervical and vertebral arteries leading to hemorrhagic and ischemic stroke: A case report.

Background: Intra-and extracranial artery dissections are uncommon but significant causes of ischemic stroke and subarachnoid hemorrhage (SAH). While individual dissections are well-documented, simultaneous dissections of multiple vessels leading to both hemorrhagic and ischemic strokes are extremely rare.

Case Description: A 41-year-old man presented with acute onset of headache, vomiting, and loss of consciousness.

Midazolam with fentanyl for endobronchial ultrasound-guided transbronchial needle aspiration: a randomized, double-blind, phase III study.

Background: Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is a common technique for sampling mediastinal and hilar lymph nodes. However, the optimal sedation for EBUS-TBNA remains unclear. We aimed to evaluate the efficacy of adding fentanyl to midazolam.

Optimizing Cabozantinib Dosing in Unresectable Hepatocellular Carcinoma of 7-on/7-off Regimen.

Cabozantinib (CAB) causes a high incidence of adverse events in unresectable hepatocellular carcinoma (u-HCC) and requires dose adjustments. We evaluated the efficacy and safety of the 7-on/7-off regimen composed of 7 consecutive days' administration of CAB followed by a 7-day rest period. This was a retrospective analysis of 35 patients with u-HCC, who were treated with CAB in a multicenter cohort in Japan from 2020 to 2024.

Lipopolysaccharide preconditioning augments the antibacterial activity of renal macrophages and ameliorates acute kidney injury caused by bacteremia in mice.

IntroductionRepeated injections of low-dose lipopolysaccharide (LPS preconditioning) augment the antibacterial activity of liver macrophages. In this study, a mouse model of acute kidney injury (AKI) induced by bacteremia was used to investigate the effects of LPS preconditioning on renal macrophages.MethodsEight-week-old C57BL/6J mice were preconditioned with either low-dose LPS (5 μg/kg) or the vehicle for three consecutive days.

Crystal growth and characterization of 1-inch GTAGG: Ce single crystal for sub-micron resolution synchrotron radiation X-ray imaging.

A high-performance Ce-doped (Gd, Tb)(Ga, Al)O (GTAGG: Ce) single crystal was engineered and characterized, demonstrating a high application potential for advanced X-ray imaging. A transparent 1-inch diameter single crystal was grown using the Czochralski method, demonstrating a significant advancement in large-scale scintillator production. Comprehensive characterization using X-ray diffraction and electron probe micro-analysis confirmed the crystal's structural integrity.

Adverse Effects of Coronavirus Disease 2019 (COVID-19) on First Medical Contact to Reperfusion Time in Urban ST-Segment Elevation Myocardial Infarction Patients and Advantage of Prehospital Electrocardiography.

Background: We have previously reported the advantages of a prehospital 12-lead electrocardiography system (P-ECG) for ST-segment elevation myocardial infarction (STEMI) patients ( 2019; 2022, 2023). Since 2020 with Coronavirus disease 2019 (COVID-19), the patient transport situation has changed dramatically. We investigated how patient transport was changed by COVID-19.

Clinical Characteristics and Long-Term Efficacy of Peroral Endoscopic Myotomy in Pediatric Achalasia.

Background And Aims: Pediatric achalasia and peroral endoscopic myotomy (POEM) are not well investigated. This study aimed to examine the clinical characteristics of pediatric achalasia and evaluate the long-term outcomes of POEM.

Methods: We conducted a multicenter study across 14 high-volume centers, comparing the clinical characteristics of children (aged < 18 years) diagnosed with achalasia to those of adults (aged < 65 years).